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Results 31-38 of 38 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
2009
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
Spurlock, G.
;
Bennett, E.
;
Chuzhanova, N.
;
Thomas, N.
;
H-Ping, J.
;
Side, L.
;
Davies, S.
;
Haan, E.
;
Kerr, B.
;
Huson, S.
;
Upadhyaya, M.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
2009
A Novel Bocavirus Associated with Acute Gastroenteritis in Australian Children
Arthur, J.
;
Higgins, G.
;
Davidson, G.
;
Givney, R.
;
Ratcliff, R.
;
Münger, K.
1996
Characterization and chromosomal localization of the human A2a adenosine receptor gene - ADORA2A
Le, F.
;
Townsend-Nicholson, A.
;
Baker, E.
;
Sutherland, G.
;
Schofield, P.
1995
Assignment of the gene encoding human galanin receptor (GALNR) to 18q23 by in situ hybridisation
Nicholl, J.
;
Kofler, B.
;
Sutherland, G.
;
Shine, J.
;
Iismaa, T.
2001
Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcRI-b
Hulett, M.
;
Pagler, E.
;
Hornby, J.
;
Hogarth, P.
;
Eyre, H.
;
Baker, E.
;
Crawford, J.
;
Sutherland, G.
;
Ohms, S.
;
Parish, C.
2002
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
Shaw, M.
;
Chiurazzi, P.
;
Romain, D.
;
Neri, G.
;
Gecz, J.
Discover
Author
13
Sutherland, G.
12
Gecz, J.
7
Baker, E.
7
Eyre, H.
7
Haan, E.
6
et al.
3
Akkari, P.
3
Callen, D.
3
Laing, N.
3
Wilton, S.
.
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Subject
32
Molecular Sequence Data
22
Female
14
Amino Acid Sequence
14
Animals
14
Pedigree
13
Chromosome Mapping
10
Mutation
9
DNA Primers
9
Sequence Homology, Amino Acid
8
DNA Mutational Analysis
.
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Date issued
5
2010 - 2014
16
2000 - 2009
17
1995 - 1999